| http://purl.uniprot.org/citations/30260058 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/30260058 | http://www.w3.org/2000/01/rdf-schema#comment | "Aromatic l-amino acid decarboxylase deficiency (AADCD), attributed to mutations in the dopa decarboxylase (DDC) gene, is a rare neurometabolic disease resulting from a defect in the biosynthesis of dopamine and serotonin. The DDC c.714+4A>T mutation is the most prevalent mutation among patients with AADCD, and is also a founder mutation among Taiwanese patients. In this study, the molecular consequences and function of this mutation were examined in AADCD patient-derived lymphoblastoid cells. We identified novel DDC mRNA isoforms spliced with a new exon (exon 6a) in normal and c.714+4A>T lymphoblastoid cells. In addition, we identified the SR proteins (SRSF9 and SRSF6), as well as cis-elements involved in modulating the splicing of this mutated transcript. Notably, we demonstrated that antisense oligonucleotides (ASOs) were able to restore the normal mRNA splicing and increase the level of DDC protein, as well as its downstream product serotonin, in lymphoblastoid cells derived from the patient with AADCD, suggesting that these ASOs might represent a feasible alternative strategy for gene therapy of AADCD in patients with the common c.714+4A>T mutation."xsd:string |
| http://purl.uniprot.org/citations/30260058 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.23659"xsd:string |
| http://purl.uniprot.org/citations/30260058 | http://purl.uniprot.org/core/author | "Yang M.T."xsd:string |
| http://purl.uniprot.org/citations/30260058 | http://purl.uniprot.org/core/author | "Hsu C.C."xsd:string |
| http://purl.uniprot.org/citations/30260058 | http://purl.uniprot.org/core/author | "Lee H.F."xsd:string |
| http://purl.uniprot.org/citations/30260058 | http://purl.uniprot.org/core/author | "Chi C.S."xsd:string |
| http://purl.uniprot.org/citations/30260058 | http://purl.uniprot.org/core/author | "Tsai C.R."xsd:string |
| http://purl.uniprot.org/citations/30260058 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/30260058 | http://purl.uniprot.org/core/name | "Hum Mutat"xsd:string |
| http://purl.uniprot.org/citations/30260058 | http://purl.uniprot.org/core/pages | "2072-2082"xsd:string |
| http://purl.uniprot.org/citations/30260058 | http://purl.uniprot.org/core/title | "Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l-amino acid decarboxylase deficiency."xsd:string |
| http://purl.uniprot.org/citations/30260058 | http://purl.uniprot.org/core/volume | "39"xsd:string |
| http://purl.uniprot.org/citations/30260058 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/30260058 |
| http://purl.uniprot.org/citations/30260058 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/30260058 |
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